A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5678457



Internal ID21704778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:170316619..170316619hg38UCSC Ensembl
chr3:170034407..170034407hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38203
hg19203
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17220450
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5678457
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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